HS2ST1 Gene Summary [Human]

Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]

Details

Type
Protein Coding
Official Symbol
HS2ST1
Official Name
heparan sulfate 2-O-sulfotransferase 1 [Source:HGNC Symbol;Acc:HGNC:5193]
Ensembl ID
ENSG00000153936
Bio databases IDs NCBI: 9653 Ensembl: ENSG00000153936
Aliases heparan sulfate 2-O-sulfotransferase 1
Synonyms 2OST, dJ604K5.2, heparan sulfate 2-O-sulfotransferase 1, heparan sulphate 2-O-sulphotransferase 1, Hs2st, KIAA0448, mKIAA0448, NFSRA
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HS2ST1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • sulfotransferase
  • heparin-sulfate 2-sulfotransferase
  • enzyme
  • protein binding
  • Sulfotransferase family

Pathways

Biological processes and signaling networks where the HS2ST1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neurofacioskeletal syndrome with renal agenesis
  • neurofacioskeletal syndrome without renal agenesis
  • neurofacioskeletal syndrome with or without renal agenesis
  • lung squamous cell carcinoma
  • squamous cell lung cancer
  • osteoporosis
regulated by
regulates
role in cell
  • binding
  • phosphorylation in
  • binding in
  • accumulation
  • depletion
  • ricin resistance
  • signaling in
  • responsiveness
  • guidance

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Golgi Apparatus
  • Golgi membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human HS2ST1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • heparan sulfate proteoglycan biosynthetic process, enzymatic modification
  • heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
  • gene expression
  • heparin metabolic process
  • ureteric bud formation

Cellular Component

Where in the cell the gene product is active
  • membrane
  • Golgi membrane

Molecular Function

What the gene product does at the molecular level
  • heparan sulfate 2-O-sulfotransferase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.